SCN1A Horizons – A natural history study of SCN1A-related epilepsies in the United Kingdom

Brunklaus grant

Andreas Brunklaus, MD – University of Glasgow, Royal Hospital for Children, Glasgow, UK
SCN1A Horizons – A natural history study of SCN1A-related epilepsies in the United Kingdom
Grant Support £30,000 ($41,481 USD)

Grant Summary:

The SCN1A Horizons natural history study launched in November 2023 and will assess up to 400 pediatric and adult patients with SCN1A-related epilepsies, including Dravet syndrome. Patients in the UK with an established SCN1A-related epilepsy as well as newly diagnosed patients are welcome to join the study. The SCN1A Horizons natural history study is being conducted to define the seizure, neurodevelopmental, and behavioral characteristics of SCN1A-related epilepsy/Dravet syndrome in children and adults longitudinally over a period of three years. In order to evaluate established and novel treatments, including new medications and disease modifying therapy, it is important to not only document seizure frequency but also behavior, learning and motor function. This study is being done to understand as much as we can about the trajectory of children and adults living with SCN1A-related epilepsy/Dravet syndrome and the impact the genotype has on the epilepsy and the neurodevelopmental outcomes.

About the investigator:

Professor Brunklaus, is a Consultant Pediatric Neurologist at the Royal Hospital for Children, Glasgow and Honorary Professor at the School of Health and Wellbeing, University of Glasgow. He trained at the Charité Medical School, Humboldt University Berlin, Germany and completed his child neurology training at Great Ormond Street Hospital in London and the Royal Hospital for Children in Glasgow, UK. He obtained his MD from the University of Glasgow and has an ongoing research interest in epilepsy genetics, in particular sodium channel disorders. He is an international expert in SCN1A-related epilepsies and Dravet syndrome and is the author of several key publications. He is lead of the Scottish Pediatric Epilepsy Network, has numerous national and international advisory board positions and is co-chair of the International League Against Epilepsy (ILAE) Task Force on Clinical Genetic Testing.

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